Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
J Formos Med Assoc. 2019 Mar;118(3):739-742. doi: 10.1016/j.jfma.2018.12.010. Epub 2019 Jan 5.
Paternal uniparental disomy 14 (UDP(14)pat) is a rare imprinting disorder with a set of unique neonatal clinical features documented, including craniofacial abnormalities, thoracic and abdominal wall defects, and polyhydraminos. To date, no studies focus on prenatal diagnosis of uniparental disomy have been published. We report a case of a fetus with abnormal ultrasound features at 18 weeks of gestation and normal karyotype result. Subsequent Single nucleotide polymorphism (SNP)-based Affymetrix 750K Microarray analysis revealed the complete loss of heterozygosity for chromosome 14, identifying a case of uniparental disomy. Postmortem examination of the aborted fetus at 21 weeks, coupled with further Affymetrix 750K microarray analysis on the parents, confirmed the diagnosis of parental uniparental disomy for chromosome 14.
父源 14 号染色体单亲二体（UDP(14)pat）是一种罕见的印迹缺陷疾病，具有一组独特的新生儿临床特征，包括颅面异常、胸腹壁缺陷和多羊水。迄今为止，尚无关于单亲二体产前诊断的研究。我们报告了一例 18 孕周超声异常、核型正常的胎儿。随后基于单核苷酸多态性（SNP）的 Affymetrix 750K Microarray 分析显示 14 号染色体完全失去杂合性，鉴定为单亲二体病例。21 孕周流产胎儿的尸检，结合父母的进一步 Affymetrix 750K 微阵列分析，证实了 14 号染色体的父母单亲二体。
